Abstract
ABSTRACTCilia are conserved organelles that have important motility, sensory and signalling roles. The transition zone (TZ) at the base of the cilium is crucial for cilia function, and defects in several TZ proteins are associated with human congenital ciliopathies such as nephronophthisis (NPHP) and Meckel–Gruber syndrome (MKS). In several species, MKS and NPHP proteins form separate complexes that cooperate with Cep290 to assemble the TZ, but flies seem to lack core components of the NPHP module. We show that MKS proteins in flies are spatially separated from Cep290 at the TZ, and that flies mutant for individual MKS genes fail to recruit other MKS proteins to the TZ, whereas Cep290 seems to be recruited normally. Although there are abnormalities in microtubule and membrane organisation in developing MKS mutant cilia, these defects are less apparent in adults, where sensory cilia and sperm flagella seem to function quite normally. Thus, localising MKS proteins to the cilium or flagellum is not essential for viability or fertility in flies.
Highlights
Cilia and flagella are microtubule (MT)-based extensions of the plasma membrane present in evolution since the last eukaryotic common ancestor (Ishikawa and Marshall, 2011; Nigg and Raff, 2009; Sung and Leroux, 2013)
CC2D2A–GFP was no longer detectable at the transition zone (TZ) in Mks1Δ1 mutants, this protein seemed to relocalise to the basal body (BB) walls (Fig. 1A). These findings strongly suggest that the recruitment of the entire Meckel–Gruber syndrome (MKS) module of proteins to the TZ is dependent on MKS1, a TZ that can recruit Cep290 and Cby is still formed in Mks1Δ1 mutants
The TZ is essential for proper cilia function (Czarnecki and Shah, 2012; Reiter et al, 2012), and recent studies have suggested that an MKS and an NPHP module work partly redundantly with a Cep290 module to establish the TZ (Basiri et al, 2014; Schouteden et al, 2015; Williams et al, 2008, 2011)
Summary
Cilia and flagella are microtubule (MT)-based extensions of the plasma membrane present in evolution since the last eukaryotic common ancestor (Ishikawa and Marshall, 2011; Nigg and Raff, 2009; Sung and Leroux, 2013). Cilia have diverse roles in cellular sensation, signalling and motility (Basten and Giles, 2013; Berbari et al, 2009; Nigg and Raff, 2009) and are formed when the centriole pair migrates to the plasma membrane (PM). Received 1 July 2016; Accepted 19 August 2016 function and helps assemble a membrane and cytoplasmic barrier that allows the cilium to form a distinct cellular compartment (Czarnecki and Shah, 2012; Hsiao et al, 2012; Hu and Nelson, 2011; Nachury et al, 2010; Reiter et al, 2012)
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